M1I (p.Met1Ile) variant of ABCG8 (Q9H221)
M1I (p.Met1Ile) in ABCG8 (Q9H221) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1365569134
- ClinGen CA346662349
- ClinVar RCV005100940
- ClinVar RCV006262337
- Uncertain significance
- not specified; not provided
- Missense
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available